FRAGILE X SYNDROME (FXS) BY NOOR ADILAH ZULKIFLI, NURUL JAWAHIR ZOHDI

What is Fragile X Syndrome (FXS)? Inherited disease cause of mental retardation X-linked disease Incidence of 1:4500 males, 1:9000 females Premutation carrier 1:1000 males, 1:400 females Fragile X Tremor/Ataxia Syndrome (FXTAS) Fragile X Premature Ovarian Insufficiency (FXPOI)

Causes 1) Genetic changes Mutation of Fragile X Mental Retardation One (FMR-1) gene on X chromosome. This gene could not produce protein which is necessary for brain development. Most commonly an increased in the number of CGG trinucleotide repeats. Typical : 6-44 repeats Premutation : 55-200 repeats Full mutation : > 200 repeats 2) Environmental factor

Signs and symptoms Large prominent ears and a long face Intellectual disability Speech and language delay Behavioral issues such as hyperactivity, temper tantrums and hand flapping Emotional problems ADHD Macroorchidism

Signs and symptoms in the premutation carrier Mild intellectual disability Shy personality and selective lack of speech

Autism and FXS Autism -- characterized by impaired social interaction and communication, and by restricted and repetitive behavior. Autismbehavioral diagnosis FXSgenetic diagnosis 15-33% of FXS children have autism 2-6% of children with autism is diagnosed with FSX

Diagnosis DNA test Prenatal testing Genetic counselling Amniocentesis Chorionic villus sampling Genetic counselling

Treatment Currently no known cure Special education services Special X Clinics Therapy Drugs Stimulants Antipsychotics

Reference National Fragile X Foundation, www.fragilex.org Wikipedia: Fragile X syndrome, http://en.wikipedia.org/wiki/Fragile_X_syndrome PubMed Health: Fragile X syndrome, http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002633/ Persatuan Penyakit Jarang Jumpa Malaysia (Malaysian Rare Disorders Society) http://www.rightdiagnosis.com/f/fragile_x_syndrome/stats-country.htm#extrapwarning http://www.who.int/genomics/public/geneticdiseases/en/index2.html#Fragile X Disease